Sponsored by Ultragenyx Pharmaceutical Inc.
| Variant ID | 127 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22076388_22076474del |
| Variant | c.350-?_436+?del |
| Variant Start Position | 350 |
| Location | Intron 3 |
| Amino Acid Change | Deletion (Exon 4) |
| ACMG Call | Pathogenic |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | - | Effect Type | Deletion |
| Variant Type | CNV |
| PMID | 32253725, 34806794 |
| Article Count | 2 |
| Times Observed | < 3 |
| Clinical Phenotype | Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature |
| ACMG Categories | - |
| ACMG Explanations | - |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | - |
| No Contrary Evidence Found | No |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | - |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | - |
| Other Alleles | - |
| Note | nan |
| Warnings | - |